Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 16033918

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies. 8688334

1996

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay. 12917626

2003

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. 28573494

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes. 27458004

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Germ-line splicing mutation of the p53 gene in a cancer-prone family. 1467311

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. 27081505

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 18685109

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. 21305319

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis. 20471942

2010

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française. 10589545

1999

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Germline TP53 variants and susceptibility to osteosarcoma. 25896519

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Multiple malignancies in a child with de novo TP53 mutation. 21345075

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Two cases of osteosarcoma occurring as second malignancy of childhood cancer. 10697617

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. 11051239

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Characterization of germline TP53 splicing mutations and their genetic and functional analysis. 11420676

2001

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 10922393

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma. 16707427

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy. 10713666

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR Detection of minimal residual cancer to investigate why oral tumors recur despite seemingly adequate treatment. 10914716

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 GeneticVariation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.170 CausalMutation CLINVAR A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature. 19127094

2008